R284Q (p.Arg284Gln) variant of VPS35 (Q96QK1)
R284Q (p.Arg284Gln) in VPS35 (Q96QK1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Parkinson disease 17. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R284Q (p.Arg284Gln) variant details
- p.Arg284Gln
- rs771276024
- ClinGen CA8036966
- ClinVar RCV000286070
- ClinVar RCV005894464
- Uncertain significance
- Parkinson disease 17
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.12
- CADD 23.20
- PolyPhen-2 0.13
- SIFT 0.20
- ClinVar: Uncertain significance (Parkinson disease 17)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: VPS35-Related Parkinson Disease. (PMID 28796472)